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<p>We hypothesized that the <i>BRCA1</i> c.68_69del variant is highly prevalent among individuals with Roma ancestry from Spain due to a founder effect, as in the Ashkenazi Jewish population, where targeted screening has proven to be cost-effective. We conducted two cross-sectional prevalence studies in self-reported Roma adults from a community-based and a nationwide sample. To assess variant origin, we reconstructed haplotypes in carriers with Roma, Indian, Ashkenazi Jewish and European ancestry, and compared haplotype sharing and mutation-age estimates. <i>BRCA1</i> c.68_69del variant was detected in 3.6% (16/440) of the community-based Roma sample and 0.8% (2/258) of the nationwide Roma sample. Roma carriers shared extended haplotypes (1.4–16.9 Mb) with carriers of presumed European and Ashkenazi Jewish ancestry, supporting a common founder, whereas minimal overlap (65 kb) with the Indian-ancestry carrier suggested an independent origin, despite the Roma population’s Indian origin. Mutation-age estimates were 925 years ago in non-Roma carriers and 600 years ago in Roma carriers. Shared haplotypes support an Iberian founder later enriched in Roma, likely leading to a high prevalence of <i>BRCA1</i> c.68_69del in Spanish Roma and supporting targeted genetic screening within this community.</p>

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BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年6月23日

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  • Ares Solanes-Cabús,
  • Carmen Castillo-Manzano,
  • Paula Rofes,
  • Santiago Pérez-Marco,
  • Judith Isach,
  • Gisela Oñate,
  • Iris Teruel,
  • Marta Crous-Bou,
  • Roser Lleuger-Pujol,
  • Mónica Salinas,
  • Rafael de Cid,
  • Jesús del Valle,
  • Lídia Feliubadaló,
  • German Portela,
  • Matilde Navarro,
  • Joan Brunet,
  • David Comas,
  • Conxi Lázaro

摘要

We hypothesized that the BRCA1 c.68_69del variant is highly prevalent among individuals with Roma ancestry from Spain due to a founder effect, as in the Ashkenazi Jewish population, where targeted screening has proven to be cost-effective. We conducted two cross-sectional prevalence studies in self-reported Roma adults from a community-based and a nationwide sample. To assess variant origin, we reconstructed haplotypes in carriers with Roma, Indian, Ashkenazi Jewish and European ancestry, and compared haplotype sharing and mutation-age estimates. BRCA1 c.68_69del variant was detected in 3.6% (16/440) of the community-based Roma sample and 0.8% (2/258) of the nationwide Roma sample. Roma carriers shared extended haplotypes (1.4–16.9 Mb) with carriers of presumed European and Ashkenazi Jewish ancestry, supporting a common founder, whereas minimal overlap (65 kb) with the Indian-ancestry carrier suggested an independent origin, despite the Roma population’s Indian origin. Mutation-age estimates were 925 years ago in non-Roma carriers and 600 years ago in Roma carriers. Shared haplotypes support an Iberian founder later enriched in Roma, likely leading to a high prevalence of BRCA1 c.68_69del in Spanish Roma and supporting targeted genetic screening within this community.